Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 1
- 主要终点
- Heart rate
研究概览
简要总结
The hypotheses of the present study of Freeman-Sheldon syndrome (FSS) and related conditions are: (1) that exercise capacity is lower in FSS patients versus normal controls, and the lower exercise capacity is due to changes in the muscles' normal structure and an inability of sufficient quantity of the energy molecule to bind to muscle; (2) this muscle problem reduces amount of air that can get in the lung and amount of oxygen carried in the blood, which then has the effect of increasing heart and respiration rates, blood pressure, and deep body temperature, and produces muscle rigidity; (3) the events noted above, when they occur during cardiac stress testing, are related to a problem similar to malignant hyperthermia (MH) reported in some muscle disorders without use of drugs known to cause MH. MH (a life-threatening metabolic reaction that classically is triggered when susceptible persons receive certain drugs used in anaesthesia.
详细描述
This study is a research project initiated by the graduate research student (Mikaela I. Poling) and assisted by the clinical genetics fellow and graduate student (Andrés Morales) in partial fulfilment the requirements for their Masters degrees in Clinical and Applied Physiology, under approval, direction, and supervision of the study PI (Rodger J. McCormick).
Importance of Present Study:
FSS is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities. There are no prospective studies addressing physiological parameters, which are necessary to enable understanding of the underlying pathology and pathophysiology of Freeman-Sheldon syndrome. Elucidating any deviations in baseline and stress physiological parameters in FSS patients versus standard normal values and normal control subjects is of critical importance in tailoring therapeutic interventions to this challenging patient population.
Background:
Vanek et al. (1986) purposed FSS spectrum is a non-progressive congenital myopathy, giving pathological and electromyographical (EMG) evidence. They found white fibrose tissue within histologically normal muscle fibres, resulting in abnormal EMGs.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Freeman-Sheldon syndrome,
- •Sheldon-Hall syndrome,
- •Distal arthrogryposis type 1, or
- •Distal arthrogryposis type 3
- •Deceased patients with enough clinical information available to satisfy study requirements
- •Syndrome Group
排除标准
- •Individuals not confirmed to have a condition under study
- •Deceased patients without enough clinical information available to satisfy study requirements
- •Patients with other anomalies, not having one of the above syndromes
- •Patients or parents of minor children not willing to give consent
- •Mature female patients who are pregnant or breast-feeding will be reassessed for consideration for enrolment.
- •Mature female patients who are currently experiencing menses will be reassessed for consideration for enrolment.
- •Patients with active, acute comorbid illness will be reassessed for consideration for enrolment.
- •Control Group Inclusion Criteria:
- •Subjects must be healthy and free of active disease.
- •Subject or parent of minor child must be willing to give consent.
- •Subjects must fall within the age-bracket to be matched with a Syndrome Group patient already screened and enroled in the study
- •Subjects must be non-tobacco users and non-drinkers.
- •Control Group Exclusion Criteria:
- •Subjects exceptional for their age in body weight, stature, or habitus according to commonly accepted guidelines
- •Subjects with active psychiatric illness, as manifested by abnormal mental status examination
- •Subjects with active physical illness, especially respiratory or cardiac problem, as manifested by abnormal findings on physical examination
- •Subjects with significant diagnosis of a constitutional disease or genetic disorder
- •Subjects with a history of severe trauma resulting in either an anatomical of physiological deformity that impairs function
- •Non-living subjects
- •Candidates who fail the stress test
- •Mature female subjects who are pregnant or breast-feeding will be reassessed for consideration for enrolment.
- •Mature female subjects who are currently experiencing menses will be reassessed for consideration for enrolment.
- •Subjects with active, acute illness will be reassessed for consideration for enrolment.
- •Any other condition or anomaly expected to affect current physiology listed in AFI-48-123.
结局指标
主要结局
Heart rate
时间窗: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours)
Increased heart rate, measured electrocardiographically, is used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.
Oxygen Consumption
时间窗: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours)
Oxygen consumption, measured by ventilation of expired oxygen, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.
次要结局
- Non-Invasive Arterial Blood Pressure(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Spirometry (Forced Expiratory Volume/Forced Vital Capacity)(Evaluated before and after exercise, during two study visits (lasting an average of 1-3 hours))
- Saturation of Peripheral Oxygen(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Respiratory Rate(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Heart Rhythm(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Core Temperature(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Adenosine Triphosphate(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Muscle Rigidity(Evaluated while exercising, during second of two study visits (lasting an average of 1-3 hours))
- Functional and Health-Related Quality of Life(Evaluated in first of two study visits, lasting an average of 1-3 hours)
- Lactic Acid(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Perceived Exertion(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))
- Glucose(Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours))